TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Amyloidosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1294297409
rs1294297409
Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis. 25644864 2015